120. Hereditary dystonia Disease details / Clinical trials / Drug dev / DR info
Clinical trials : 2 / Drugs : 2 - (DrugBank : 0) / Drug target gene : 0 - Drug target pathway : 0
| Other names | X-linked dystonia parkinsonism;Lubag;Segawa syndrome;SS;Dopa-responsive dystonia;DRD;Paroxysmal nonkinesigenic dyskinesia 1;PNKD1;Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity;Paroxysmal choreoathetosis and episodic ataxia and spasticity;CSE;;Episodic kinesigenic dyskinesia 1;EKD1;Myoclonus-dystonia syndrome;MDS;Rapid-onset dystonia-parkinsonism;RDP;Alternating hemiplegia of childhood;AHC;Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss;CAPOS;Paroxysmal execise-induced dyskinesia;PED;Episodic kinesigenic dyskinesia 2;EKD2;Paroxysmal nonkinesigenic dyskinesia 2;PNKD2;MEPAN syndrome; | ||
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| Disease group | Neuromuscular diseases | ||
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Domestic patients
Med expenses recipients (FY2023) |
147 patients Age distribution
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| Related info (in Japanese) | - | ||
| Clinical research form [April 1, 2025 ~] (in Japanese) | Overview, diagnostic criteria, etc. (pdf), Clinical research form (pdf) | ||
| Specific pediatric chronic diseases, Japan (in Japanese) | 11-31-86. alternating hemiplegia of childhood; AHC | ||
| 11-32-87. dystonia musculorum deformans | |||
| 11-32-88. Segeawa syndrome; Dopamine-responsive dystonia; DRD; Hereditary progressive dystonia with diurnal variation; HPD | |||
| Subtypes | - | ||